Linked Data
ClinVar Variation Id:
3676
ClinVar RCV Id:
RCV001582463
dbSNP Id:
rs121908046
gnomAD v2:
1-24125397-T-C
gnomAD v3:
1-23798907-T-C
gnomAD v4:
1-23798907-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23798907T>C , CM000663.2:g.23798907T>C | GRCh38 |
| NC_000001.10:g.24125397T>C , CM000663.1:g.24125397T>C | GRCh37 |
| NC_000001.9:g.23997984T>C | NCBI36 |
| NG_007068.1:g.6898A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617979.5:c.101A>G MANE Select | ENSP00000483375.1:p.Asn34Ser | |
| ENST00000374497.7:c.101A>G | ENSP00000363621.3:p.Asn34Ser | |
| ENST00000418277.5:c.-71-177A>G | ENSP00000414719.1:n.-71-177A>G | |
| ENST00000425913.5:c.101A>G | ENSP00000393359.1:p.Asn34Ser | |
| ENST00000429356.5:c.-71-177A>G | ENSP00000398585.1:n.-71-177A>G | |
| ENST00000445705.1:c.101A>G | ENSP00000398257.1:p.Asn34Ser | |
| ENST00000459934.5:n.219A>G | ||
| ENST00000466250.5:n.227A>G | ||
| ENST00000467070.1:n.499A>G | ||
| ENST00000467493.5:n.177A>G | ||
| ENST00000470383.1:n.1493A>G | ||
| ENST00000470949.5:n.72-177A>G | ||
| ENST00000481736.5:n.142-177A>G | ||
| ENST00000486382.1:n.207A>G | ||
| ENST00000617979.4:c.101A>G | ENSP00000483375.1:p.Asn34Ser | |
| NM_000403.3:c.101A>G | NP_000394.2:p.Asn34Ser | |
| NM_001008216.1:c.101A>G | NP_001008217.1:p.Asn34Ser | |
| NM_001127621.1:c.101A>G | NP_001121093.1:p.Asn34Ser | |
| NM_001008216.2:c.101A>G MANE Select | NP_001008217.1:p.Asn34Ser | |
| NM_000403.4:c.101A>G | NP_000394.2:p.Asn34Ser | |
| NM_001127621.2:c.101A>G | NP_001121093.1:p.Asn34Ser |